Canonical Allele Identifier: CA1693557319

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21567539_21567541delinsCAG , CM000669.2:g.21567539_21567541delinsCAG	GRCh38
NC_000007.13:g.21607157_21607159delinsCAG , CM000669.1:g.21607157_21607159delinsCAG	GRCh37
NC_000007.12:g.21573682_21573684delinsCAG	NCBI36
NG_012886.2:g.29325_29327delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.1195-2530_1195-2528delinsCAG MANE Select	ENSP00000475939.1:n.1195-2530_1195-2528delinsCAG
ENST00000328843.10:c.1195-2530_1195-2528delinsCAG	ENSP00000330671.7:n.1195-2530_1195-2528delinsCAG
ENST00000409508.7:c.1195-2530_1195-2528delinsCAG	ENSP00000475939.1:n.1195-2530_1195-2528delinsCAG
ENST00000496218.1:n.81-2530_81-2528delinsCAG
ENST00000620169.4:c.1195-2530_1195-2528delinsCAG	ENSP00000481693.1:n.1195-2530_1195-2528delinsCAG
NM_001277115.1:c.1195-2530_1195-2528delinsCAG	NP_001264044.1:n.1195-2530_1195-2528delinsCAG
XR_927090.1:n.563+5785_563+5787delinsCTG
XR_001745114.1:n.2793+5785_2793+5787delinsCTG
NM_001277115.2:c.1195-2530_1195-2528delinsCAG MANE Select	NP_001264044.1:n.1195-2530_1195-2528delinsCAG